3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: Prenatal diagnosis and aCGH characterization

被引：15

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
]}

Lin, Chen-Ju ^{[1
]}

Chen, Yi-Yung ^{[1
]}

Wang, Liang-Kai ^{[1
]}

Chern, Schu-Rern ^{[2
]}

Wu, Peih-Shan ^{[7
]}

Su, Jun-Wei ^{[1
,8
]}

Chen, Li-Feng ^{[1
]}

Town, Dai-Dyi ^{[1
]}

Pan, Chen-Wen ^{[1
]}

Wang, Wayseen ^{[2
,9
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[4] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[5] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[6] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan

[7] Gene Biodesign Co Ltd, Taipei, Taiwan

[8] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan

[9] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

来源：

GENE | 2013年 / 532卷 / 01期

关键词：

3q duplication; 9q deletion; CLDN1; CLDN16; EPHB3; Omphalocele; PARTIAL TRISOMY 3Q; MOLECULAR CYTOGENETIC CHARACTERIZATION; NOVO INTERSTITIAL DUPLICATION; DUP(3Q) SYNDROME; CHROMOSOME-3; DUPLICATION; DELETION-DUPLICATION; PURE DUPLICATION; DISTAL DELETION; DELINEATION; MONOSOMY;

D O I：

10.1016/j.gene.2013.09.025

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal screening and facial dysmorphism with distinct features of the 3q duplication syndrome and Kleefstra syndrome. The 26.61-Mb duplication of 3q26.31-q29 encompasses EPHB3, CLDN1 and CLDN16, and the 972-kb deletion of 9q343 encompasses EHMT1. We review the literature of partial trisomy 3q associated with omphalocele and discuss the genotype-phenotype correlation in this case. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：80 / 86

页数：7

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